Zobrazeno 1 - 10
of 93
pro vyhledávání: '"Jianbo, Shu"'
Autor:
Ruiping Zhang, Xiaoyu Cui, Yan Zhang, Huiqing Ma, Jing Gao, Ying Zhang, Jianbo Shu, Chunquan Cai, Yang Liu
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-15 (2024)
Abstract Background Genetic disorders significantly affect patients in neonatal intensive care units, where establishing a diagnosis can be challenging through routine tests and supplementary examinations. Whole-exome sequencing offers a molecular-ba
Externí odkaz:
https://doaj.org/article/df8a373190c44311b47041164a2035ee
Publikováno v:
Global Medical Genetics, Vol 11, Iss 01, Pp 013-019 (2024)
Background Variants of ubiquitin-specific protease 7 (USP7) gene in humans are associated with a neurodevelopmental disorder—Hao-Fountain syndrome, its core symptoms including developmental delay, intellectual disability, and speech delay. Other va
Externí odkaz:
https://doaj.org/article/2a05badb46a948e494c083a40f0f3cd2
Publikováno v:
Global Medical Genetics, Vol 11, Iss 01, Pp 025-028 (2024)
Background Aminoacyl-tRNA synthetases (ARSs) are evolutionarily conserved enzymes that ensure the accuracy of the translation process. Isoleucyl-tRNA synthetase 2 (IARS2) gene is a type of ARS that encodes mitochondrial isoleucine-tRNA synthetase. Pa
Externí odkaz:
https://doaj.org/article/e0c64af173ed46d297225577f02fef60
Publikováno v:
Global Medical Genetics, Vol 11, Iss 01, Pp 020-024 (2024)
Introduction CEP152 encodes protein Cep152, which associates with centrosome function. The lack of Cep152 can cause centrosome duplication to fail. CEP152 mutates, causing several diseases such as Seckel syndrome-5 and primary microencephaly-9.
Externí odkaz:
https://doaj.org/article/ce040169eaee4dd6a61582a7cb890c55
Autor:
Jiaci Li, Xinping Wei, Yuchen Sun, Xiaofang Chen, Ying Zhang, Xiaoyu Cui, Jianbo Shu, Dong Li, Chunquan Cai
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Background Phosphoserine aminotransferase deficiency (PSATD) is an autosomal recessive disorder associated with hypertonia, psychomotor retardation, and acquired microcephaly. Patients with PSATD have low concentrations of serine in plasma a
Externí odkaz:
https://doaj.org/article/b9208681691a42a4884ae4cc78dd8297
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundThe gamma-aminobutyric acid (GABA) variant causes developmental and epileptic encephalopathy 45 (DEE45), an autosomal dominant disorder that results in oculocortical visual impairment, reduced muscle tone, psychomotor retardation, and epile
Externí odkaz:
https://doaj.org/article/03e72a674361405b97b2bf638b077b55
Autor:
Xinjie Zhang, Xiaowei Xu, Jianbo Shu, Xiufang Zhi, Hong Wang, Yan Dong, Wenchao Sheng, Dong Li, Yingtao Meng, Chunquan Cai
Publikováno v:
Heliyon, Vol 10, Iss 5, Pp e26912- (2024)
Objectives: Methylmalonic acidemia (MMA) is a rare inborn genetic disorder that is characterized by increased levels of methylmalonic acid in blood plasma and urine. Isolated methylmalonic acidemia is one of the most common types of MMA and is caused
Externí odkaz:
https://doaj.org/article/f74b1d1e15de4b80bd5e65b288cd6097
Publikováno v:
BMC Pediatrics, Vol 23, Iss 1, Pp 1-10 (2023)
Abstract Background Neonatal hyperbilirubinemia (NH) is a major cause of hospitalization after birth. Previous studies indicated that vitamin D deficiency might play an important role in NH susceptibility, but the results were controversial. Meanwhil
Externí odkaz:
https://doaj.org/article/5e50fa8fd3c744dea19a4219e542ff3b
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 8, Pp n/a-n/a (2023)
Abstract Background The congenital disorder of glycosylation associated with ALG1 (ALG1‐CDG) is a rare autosomal recessive disease. Due to the deficiency of β1,4 mannosyltransferase caused by pathogenic variants in ALG1 gene, the assembly and proc
Externí odkaz:
https://doaj.org/article/d27c9e3284a14278ba8711ca36f24912
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Duchenne muscular dystrophy (DMD) is an X-linked recessive inherited disorder caused by the absence of the Dystrophin protein. Cerebral cavernous malformations (CCMs) are the most common vascular abnormalities in the central nervo
Externí odkaz:
https://doaj.org/article/ce31f180a8d74b6187cfc6e3248d1eac